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Human Molecular Genetics|September 24, 2013
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementiaOriol Dols-Icardo, Alberto García-Redondo, Ricard Rojas-García, et al.Scientific Reports|July 29, 2017
Distribution and genotype-phenotype correlation of GDAP1 mutations in SpainRafael Sivera, Marina Frasquet, Vincenzo Lupo, et al.Neurobiology of Aging|July 24, 2018
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase functionMartina de Majo, Simon D Topp, Bradley N Smith, et al.Human Mutation|September 1, 2012
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwideAlberto García-Redondo, Oriol Dols-Icardo, Ricard Rojas-García, et al.Science Translational Medicine|May 5, 2017
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosisBradley N Smith, Simon D Topp, Claudia Fallini, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|February 17, 2022
Clinical trials in pediatric ALS: a TRICALS feasibility studyTessa Kliest, Ruben P A Van Eijk, Ammar Al-Chalabi, et al.Nature Communications|April 16, 2016
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementiaKelly L Williams, Simon Topp, Shu Yang, et al.Neuron|November 7, 2014
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALSBradley N Smith, Nicola Ticozzi, Claudia Fallini, et al.Nature Genetics|July 26, 2016
NEK1 variants confer susceptibility to amyotrophic lateral sclerosisKevin P Kenna, Perry T C van Doormaal, Annelot M Dekker, et al.Neuron|March 24, 2018
Genome-wide Analyses Identify KIF5A as a Novel ALS GeneAude Nicolas, Kevin P Kenna, Alan E Renton, et al.Pageof 8